Touching Lives - October 2013

It’s all in the genes

Research funded by Action has discovered some of the genes that can cause devastating inherited brain diseases in children that lead to disability and even death.

Dr Manju Kurian from Great Ormond Street Hospital and the Institute of Child Health in London was awarded a Research Training Fellowship of £135,648 by Action in 2008 to investigate the genetic basis of a variety of conditions, such as childhood epilepsy and movement disorders. Dr Kurian’s grant was supported by a legacy from Gordon Walkinshaw. Dr Kurian first became interested in this area of research while specialising in paediatric neurology.

She was dismayed to discover the lack of medical relief available for children suffering a range of severe and disabling symptoms, such as seizures, blindness and learning difficulties. With the Action funding, Dr Kurian was able to find certain disease-causing genes in families with more than one child affected by these neurological conditions. She found five genes associated with early-onset epilepsy, as well as a gene that causes a movement disorder in children that is like Parkinson’s. From this, she and her team have been able to genetically diagnose a number of children who were previously not able to get any answers about their conditions.

Dr Kurian’s work could also lead to prenatal testing during future pregnancies in families considered to be at risk.